A novel homozygous c.1154+3_1151+6delAAGT mutation in CERKL causes autosomal recessive retinitis pigmentosa with a special phenotype in a consanguineous Tunisian Family
Purpose The aim of our study was to assess the clinical phenotype and to determine the causative gene in a Tunisian family with an autosomic recessive retinitis pigmentose (arRP). Methods All accessible members of a consanguineous Tunisian family were included and underwent full ophthalmic examinati...
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| Veröffentlicht in: | Acta ophthalmologica (Oxford, England) Jg. 94; H. S256 |
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| Hauptverfasser: | , , , , , , |
| Format: | Journal Article |
| Sprache: | Englisch |
| Veröffentlicht: |
Malden
Wiley Subscription Services, Inc
01.10.2016
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| Schlagworte: | |
| ISSN: | 1755-375X, 1755-3768 |
| Online-Zugang: | Volltext |
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